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Approved research

Genotype-Phenotype analysis of genetic kidney and liver diseases

Principal Investigator: Dr Whitney Besse
Approved Research ID: 53061
Approval date: February 5th 2020

Lay summary

Chronic Kidney Disease carries significant risk of cardiovascular mortality and progression to end-stage kidney disease (ESKD) requiring dialysis or kidney transplant, and has few treatments which each are only of minimal effect. As a result, there are 2 million patients worldwide with ESKD. This group has 50% mortality by 5 years on dialysis. Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease, has no cure, and accounts for ~10% of the ESKD population in Europe. There are several other types of genetic kidney disease, resulting from mutations in any one of many different genes required for maintenance of kidney function. Many cases remain unsolved because not all genes have been discovered. We have candidate genes from studies of a large cohort of ADPKD and other genetic kidney diseases. The UK biobank will allow us to find patients in this cohort with mutations in potential new genes and correlate whether indeed the have kidney disease. Identification of new genes, and the specific health consequences mutations in them, will allow for improved prognostication following genetic tested. Most importantly, it will provide entry points of proven consequence for biological investigation and potentially direct targets for treatment.